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Page 1
Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.
Ravaglia S, Malovini A, Cirio S, Danesino C, De Filippi P, Moggio M, Mongini T, Maggi L, Servidei S, Vianello A, Toscano A, Tonin P, Maioli MA, Parini R, Filosto M, Crescimanno G, Arceri S, Piran M, Carlucci A. Ravaglia S, et al. Among authors: maioli ma. J Appl Physiol (1985). 2021 Dec 1;131(6):1762-1771. doi: 10.1152/japplphysiol.00154.2020. Epub 2021 Nov 4. J Appl Physiol (1985). 2021. PMID: 34734785 Free article.
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network. Astrea G, et al. Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x. Orphanet J Rare Dis. 2018. PMID: 30257713 Free PMC article.
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A. Filosto M, et al. Among authors: maioli ma. Adv Ther. 2019 May;36(5):1177-1189. doi: 10.1007/s12325-019-00926-5. Epub 2019 Mar 16. Adv Ther. 2019. PMID: 30879255
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Ricci G, Mele F, Govi M, Ruggiero L, Sera F, Vercelli L, Bettio C, Santoro L, Mongini T, Villa L, Moggio M, Filosto M, Scarlato M, Previtali SC, Tripodi SM, Pegoraro E, Telese R, Di Muzio A, Rodolico C, Bucci E, Antonini G, D'Angelo MG, Berardinelli A, Maggi L, Piras R, Maioli MA, Siciliano G, Tomelleri G, Angelini C, Tupler R. Ricci G, et al. Among authors: maioli ma. Sci Rep. 2020 Dec 10;10(1):21648. doi: 10.1038/s41598-020-78578-7. Sci Rep. 2020. PMID: 33303865 Free PMC article.
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Coratti G, Ricci M, Capasso A, D'amico A, Sansone V, Bruno C, Messina S, Ricci F, Mongini T, Coccia M, Siciliano G, Pegoraro E, Turri M, Filosto M, Comi G, Masson R, Maggi L, Bruno I, D'Angelo MG, Trabacca A, Vacchiano V, Donati M, Simone I, Ruggiero L, Varone A, Verriello L, Berardinelli A, Agosto C, Pini A, Maioli MA, Passamano L, Brighina F, Carboni N, Garibaldi M, Zuccarino R, Gagliardi D, Siliquini S, Previtali S, Taruscio D, Boccia S, Pera MC, Pane M, Mercuri E; ITASMAC working group. Coratti G, et al. Among authors: maioli ma. Neurology. 2023 Mar 14;100(11):522-528. doi: 10.1212/WNL.0000000000201654. Epub 2022 Dec 2. Neurology. 2023. PMID: 36460469 Free PMC article.
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Marinella G, Astrea G, Buchignani B, Cassandrini D, Doccini S, Filosto M, Galatolo D, Gallone S, Giannini F, Lopergolo D, Maioli MA, Magri F, Malandrini A, Mandich P, Mari F, Massa R, Mata S, Melani F, Moggio M, Mongini TE, Pasquariello R, Pegoraro E, Ricci F, Ricci G, Rodolico C, Rubegni A, Siciliano G, Sperti M, Ticci C, Tonin P, Santorelli FM, Battini R. Marinella G, et al. Among authors: maioli ma. Int J Mol Sci. 2022 Nov 23;23(23):14567. doi: 10.3390/ijms232314567. Int J Mol Sci. 2022. PMID: 36498898 Free PMC article.
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Dosi C, et al. Among authors: maioli ma. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC article.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Among authors: maioli ma. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study.
Vicino A, Bello L, Bonanno S, Govoni A, Cerri F, Ferraro M, Capece G, Gadaleta G, Meneri M, Vacchiano V, Ricci G, D'Errico E, Tramacere I, Banfi P, Bortolani S, Zanin R, Maioli MA, Silvestrini M, Previtali SC, Berardinelli A, Turri M, Coccia M, Mantegazza R, Liguori R, Filosto M, Siciliano G, Simone IL, Mongini T, Comi G, Pegoraro E, Maggi L. Vicino A, et al. Among authors: maioli ma. Neuromuscul Disord. 2023 Dec;33(12):911-916. doi: 10.1016/j.nmd.2023.10.002. Epub 2023 Oct 12. Neuromuscul Disord. 2023. PMID: 37945485
47 results